ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) (rs1601723615)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Molecular Biology Lab, Hospital Juan P Garrahan RCV000859983 SCV000920885 uncertain significance Noonan syndrome 2; Noonan syndrome 10 no assertion criteria provided clinical testing According to ACMG guidelines this is classified as variants of unknown significance. It was not identified in the databases, including ExAC and 1000 Genomes. Different in silico analysis classified it as deleterious. The variant c.2245T>C (p.Tyr749His) is located in the BTB/POZ domain. All mutations described so far in this domain are associated to recessive Noonan syndrome.

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